Allele Registry

Canonical Allele Identifier: CA10920363

Gene: C1QB HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.22659910T>C

GRCh37 chr1:g.22986403T>C

Linked Data - Sequence & Population

gnomAD v2:

1:22986403 T / C

gnomAD v3:

1:22659910 T / C

gnomAD v4:

chr1-22659910-T-C

Joint Max Group AF 0.44935186 (AFR)

Genomes Max Group AF 0.44935186 (AFR)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV001709023

ClinVar Variation:

1288576

dbSNP:

631090

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.22659910T>C , CM000663.2:g.22659910T>C	GRCh38
NC_000001.10:g.22986403T>C , CM000663.1:g.22986403T>C	GRCh37
NC_000001.9:g.22858990T>C	NCBI36
NG_007283.1:g.11722T>C , LRG_23:g.11722T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695754.1:c.181+267T>C	ENSP00000512147.1:n.181+267T>C
ENST00000695755.1:c.181+267T>C	ENSP00000512148.1:n.181+267T>C
ENST00000695756.1:c.181+267T>C	ENSP00000512149.1:n.181+267T>C
ENST00000695757.1:c.181+267T>C	ENSP00000512150.1:n.181+267T>C
ENST00000695758.1:c.207+241T>C	ENSP00000512151.1:n.207+241T>C
ENST00000695759.1:c.181+267T>C	ENSP00000512152.1:n.181+267T>C
ENST00000695760.1:c.181+267T>C	ENSP00000512153.1:n.181+267T>C
ENST00000695761.1:c.181+267T>C	ENSP00000512154.1:n.181+267T>C
ENST00000695762.1:c.181+267T>C	ENSP00000512155.1:n.181+267T>C
ENST00000695763.1:c.181+267T>C	ENSP00000512156.1:n.181+267T>C
ENST00000509305.6:c.181+267T>C MANE Select	ENSP00000423689.1:n.181+267T>C
ENST00000314933.6:c.187+267T>C	ENSP00000313967.6:n.187+267T>C
ENST00000432749.6:c.181+267T>C	ENSP00000404606.2:n.181+267T>C
ENST00000509305.5:c.181+267T>C	ENSP00000423689.1:n.181+267T>C
ENST00000510260.5:c.181+267T>C	ENSP00000426317.1:n.181+267T>C
NM_000491.3:c.187+267T>C , LRG_23t1:c.187+267T>C	NP_000482.3:n.187+267T>C
XM_011542059.1:c.187+267T>C	XP_011540361.1:n.187+267T>C
NM_000491.4:c.187+267T>C	NP_000482.3:n.187+267T>C
XM_011542059.2:c.187+267T>C	XP_011540361.1:n.187+267T>C
NM_000491.5:c.187+267T>C	NP_000482.3:n.187+267T>C
NM_001371184.1:c.187+267T>C	NP_001358113.1:n.187+267T>C
NM_001371184.3:c.181+267T>C	NP_001358113.2:n.181+267T>C
NM_001378156.1:c.181+267T>C MANE Select	NP_001365085.1:n.181+267T>C

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